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    ZNF124 zinc finger protein 124 [ Homo sapiens (human) ]

    Gene ID: 7678, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF124provided by HGNC
    Official Full Name
    zinc finger protein 124provided by HGNC
    Primary source
    HGNC:HGNC:12907
    See related
    Ensembl:ENSG00000196418 MIM:194631; AllianceGenome:HGNC:12907
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZK7; HZF16; HZF-16
    Summary
    This gene encodes a protein with an amino-terminal KRAB-A box and multiple repeated Kruppel-type (C2H2) zinc finger motifs at its carboxy terminus. The encoded protein may function as a transcription factor. Expression of this gene is increased after vascular endothelial growth factor (VEGF) stimulation in human leukemia cell lines and results in inhibition of apoptotic cell death induced by irradiation or exposure to etoposide. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in colon (RPKM 1.3), small intestine (RPKM 1.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF124 in Genome Data Viewer
    Location:
    1q44
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247121975..247172379, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246554343..246605436, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247285277..247335322, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2897 Neighboring gene fibroblast growth factor receptor 3 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 5824 Neighboring gene peroxisomal biogenesis factor 5 pseudogene Neighboring gene vomeronasal 1 receptor 16 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel zinc finger gene on human chromosome 1qter that is alternatively spliced in human tissues and cell lines. Saleh M, et al. Am J Hum Genet, 1993 Jan. PMID 7916577, Free PMC Article
    2. ZK7, a novel zinc finger gene, is induced by vascular endothelial growth factor and inhibits apoptotic death in hematopoietic cells. Kuramoto K, et al. Cancer Res, 2000 Jan 15. PMID 10667597
    3. Expression of the Krüppel-type zinc finger gene, ZK7, in head and neck squamous cell carcinoma and normal mucosa. Miyake N, et al. Cancer Lett, 2002 Nov 8. PMID 12142086
    4. Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33). Poot M, et al. Am J Med Genet A, 2007 May 15. PMID 17431901
    5. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. Kendler KS, et al. Alcohol Clin Exp Res, 2011 May. PMID 21314694, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of zinc finger protein 124 (ZNF124) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 124
    Names
    zinc finger protein HZF-16

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029824.1 RefSeqGene

      Range
      4997..22028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243740.3 → NP_001230669.1  zinc finger protein 124 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK054647, AL390728, BC032514, DA610013, DA911997
      Consensus CDS
      CCDS58067.1
      UniProtKB/Swiss-Prot
      Q15973
      Related
      ENSP00000462445.1, ENST00000472531.5
      Conserved Domains (1) summary
      pfam01352
      Location:12 → 53
      KRAB; KRAB box

    2. NM_001297567.2 → NP_001284496.1  zinc finger protein 124 isoform 3

      See identical proteins and their annotated locations for NP_001284496.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL390728, BC013605, DA911997
      Consensus CDS
      CCDS76278.1
      UniProtKB/TrEMBL
      J3QKQ6
      Related
      ENSP00000463191.1, ENST00000491356.5
      Conserved Domains (1) summary
      pfam01352
      Location:12 → 53
      KRAB; KRAB box

    3. NM_001297568.2 → NP_001284497.1  zinc finger protein 124 isoform 4

      See identical proteins and their annotated locations for NP_001284497.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (4) is longer than isoform 1.
      Source sequence(s)
      AK054647, AL390728, BC096351, BU607971, DA911997
      Consensus CDS
      CCDS73057.1
      UniProtKB/Swiss-Prot
      B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4
      Related
      ENSP00000440365.2, ENST00000543802.3
      Conserved Domains (3) summary
      COG5048
      Location:176 → 338
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:180 → 200
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:12 → 53
      KRAB; KRAB box

    4. NM_001297569.2 → NP_001284498.1  zinc finger protein 124 isoform 5

      See identical proteins and their annotated locations for NP_001284498.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK054647, AL390728, BU607971, DA911997, DN993107
      UniProtKB/Swiss-Prot
      Q15973
      Conserved Domains (2) summary
      smart00349
      Location:13 → 55
      KRAB; krueppel associated box
      pfam01352
      Location:13 → 52
      KRAB; KRAB box

    5. NM_003431.5 → NP_003422.2  zinc finger protein 124 isoform 1

      See identical proteins and their annotated locations for NP_003422.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL390728
      Consensus CDS
      CCDS31089.1
      UniProtKB/Swiss-Prot
      Q15973
      Related
      ENSP00000340749.6, ENST00000340684.10
      Conserved Domains (3) summary
      COG5048
      Location:114 → 276
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:118 → 138
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:12 → 53
      KRAB; KRAB box

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      247121975..247172379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544272.4 → XP_011542574.1  zinc finger protein 124 isoform X1

      Conserved Domains (5) summary
      smart00349
      Location:5 → 47
      KRAB; krueppel associated box
      COG5048
      Location:168 → 330
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:172 → 192
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:5 → 44
      KRAB; KRAB box
      pfam13465
      Location:184 → 209
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_001737398.3 RNA Sequence

    2. XR_007063653.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      246554343..246605436 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338625.1 → XP_054194600.1  zinc finger protein 124 isoform X2

      UniProtKB/Swiss-Prot
      B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

    2. XM_054338626.1 → XP_054194601.1  zinc finger protein 124 isoform X2

      UniProtKB/Swiss-Prot
      B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

    3. XM_054338629.1 → XP_054194604.1  zinc finger protein 124 isoform X1

    4. XM_054338627.1 → XP_054194602.1  zinc finger protein 124 isoform X2

      UniProtKB/Swiss-Prot
      B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4

    5. XM_054338628.1 → XP_054194603.1  zinc finger protein 124 isoform X2

      UniProtKB/Swiss-Prot
      B3KNP3, J3KSE1, Q15973, Q15974, Q4VAJ7, Q5T2V4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15973.2 GenPept UniProtKB/Swiss-Prot:Q15973

    Gene LinkOut

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